"GeneDx"[submitter] AND "GGT1"[gene] - ClinVar

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Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1239221	NM_001288833.2(GGT1):c.-7-126T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248239	NM_001288833.2(GGT1):c.84A>G (p.Ser28=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1238718	NM_001288833.2(GGT1):c.164+139A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294465	NM_001288833.2(GGT1):c.165-145del	GGT1	Deletion (intron variant)	not provided	GBenign
Select item 1244940	NM_001288833.2(GGT1):c.168T>C (p.Asp56=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1226346	NM_001288833.2(GGT1):c.295+12G>A	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273127	NM_001288833.2(GGT1):c.296-67G>A	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289175	NM_001288833.2(GGT1):c.296-65T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246179	NM_001288833.2(GGT1):c.296-41G>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271872	NM_001288833.2(GGT1):c.382+15A>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273914	NM_001288833.2(GGT1):c.382+175T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236112	NM_001288833.2(GGT1):c.382+226T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290240	NM_001288833.2(GGT1):c.382+238A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290063	NM_001288833.2(GGT1):c.383-254A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230205	NM_001288833.2(GGT1):c.383-89A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183246	NM_001288833.2(GGT1):c.383-88T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252200	NM_001288833.2(GGT1):c.399G>A (p.Ala133=)	GGT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1294454	NM_001288833.2(GGT1):c.530C>T (p.Ala177Val)	GGT1 (A177V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1263073	NM_001288833.2(GGT1):c.576-143A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262267	NM_001288833.2(GGT1):c.815T>C (p.Val272Ala)	GGT1 (V272A)	Single nucleotide variant (missense variant)	gamma-Glutamyltransferase deficiency +1 more	GBenign
Select item 1274246	NM_001288833.2(GGT1):c.883+144T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258797	NM_001288833.2(GGT1):c.883+175C>T	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280384	NM_001288833.2(GGT1):c.1021-75A>G	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244171	NM_001288833.2(GGT1):c.1021-45A>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235455	NM_001288833.2(GGT1):c.1021-41T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282910	NM_001288833.2(GGT1):c.1021-37T>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178010	NM_001288833.2(GGT1):c.1208+84C>T	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225300	NM_001288833.2(GGT1):c.1209-30C>T	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287050	NM_001288833.2(GGT1):c.1337-32C>T	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243823	NM_001288833.2(GGT1):c.1563+30A>C	GGT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253500	GRCh37/hg19 22q11.23(chr22:24401196-25010751)x3	ADORA2A, SPECC1L +8 more	Copy number gain	See cases	GPathogenic
Select item 253485	GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3	GSTT2B, VPREB3 +32 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253435	GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3	RSPH14, SNRPD3 +29 more	Copy number gain	See cases	GPathogenic

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Items: 35